A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17417550



Internal ID22475420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:20291002..20294173hg38UCSC Ensembl
chr5:20291111..20294282hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg383172
hg193172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5897211
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17417550
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer